Clinical Genomics is a modern approach to practising medicine in which healthcare professionals use information on the genetic makeup of a patient to diagnose, treat and prevent disease.

Diseases can be caused by a single DNA mutation, for example, cystic fibrosis, or by much larger chromosomal changes, such as in cases of Down’s syndrome. Genetic data can also help us to understand the causes of more complex diseases, such as Alzheimer’s disease or rheumatoid arthritis. Complex diseases are caused by a combination of multiple genetic changes within the patient but are also influenced by their environmental and lifestyle factors.

Identifying the genetic changes that occur in a wide-range of diseases offers opportunities to develop new treatments which are targeted at specific mutations. Genetic data can also be used to facilitate the provision of medication which avoids unwanted side effects and increases the chances of success.

The term ‘Precision Medicine’ has been coined to represent the need to gain better insights into the biological, environmental, and behavioural influences upon these diseases and to better serve patients.

Background and Driving Forces

The use of genetics in the clinic dates back to the early 1960s with the introduction of screening tests for newborn babies. Prenatal screening for cystic fibrosis and Down’s syndrome has since become a matter of course. In the UK, and increasingly around the world, clinical genetics is a recognised medical speciality with formalised training and a clear career pathway for doctors who diagnose and manage families with genetic disorders.

In recent years, technology has evolved to the point where it is no longer limited to detecting single mutations. DNA sequencing is a technology that enables us to identify all potential variations in a person’s genetic makeup, this is important when studying complex diseases in which there may be many genetic changes that preside over the risk of developing a disease.

The cost of DNA sequencing has been rapidly decreasing, this combined with innovative advances in software and storage solutions for genetic data have increased the accessibility of DNA sequencing for use in clinical settings.

Now that genetic data can be readily generated, clinical scientists need to accurately identify the genetic mutation or mutations that cause disease and to understand the consequences of those mutations upon the human body. Understanding which biological processes are disrupted by genetic mutations is vital to establishing new treatments, clinical trials or drug development thus ensuring the benefits are felt by patients and society as a whole.

Current State

Today, the potential benefits of using genetic data are widely acknowledged by scientists, clinicians, healthcare professionals and even politicians. There are numerous centres, from small private clinics to nationwide initiatives, intent on developing new processes to accelerate the implementation of clinical genomics in the healthcare, research and pharmaceutical sectors.

One particularly prominent example has been Genomics England and their 100K Genome Project, which aims to gather 100,000 genomic sequences from National Health Services (NHS) patients in the UK, providing genetic insights into diseases and their diagnoses. In some cases the diseases in question are so rare that no diagnosis was previously available or, even, possible as they were only recorded in an individual or single family.

Integration of clinical genomics into healthcare comes with challenges, particularly in understanding the vast and complex data that clinicians must now interpret and understand. However, there are new technologies being developed to help with this challenge, and this is where companies such as Congenica are leading the way.

Congenica have developed Sapientia™, a software platform that integrates human DNA data with clinical information and symptoms, and references them against vast private and public databases of genetics, helping clinicians understand the mass of data provided, and helping them to provide actionable interpretations of inherited diseases.

Previously, it took 7.3 clinicians working over a period of 4.8 years to reach a clear diagnosis for a patient with a rare disease in the UK. With Sapientia, however, it can be as little as 1 clinician and just 5 days to reach the same conclusion. A seismic shift in patient experience.

Challenges currently facing Genomic Data Interpretation

The cost and time required for sequencing a whole genome has plummeted in recent years, giving clinicians access to vast amounts of genetic information. Accurately identifying which are the disease-causing mutations within this data can be extremely challenging, but is of the utmost importance for diagnoses and the development of new treatments. Software advances have been helping clinicians by integrating multiple sources of information, including clinical traits and symptoms. Sapientia, for example, provides an actionable list of all the mutations that are likely to cause disease from any mass of data.

As more genomic data becomes available and the ability to interpret it is made possible by such software platforms, it is imperative to ensure data privacy when sharing and collaborating. Data must be anonymised to ensure that it does not contain any personal patient information, and data transfer and storage must adhere to the highest levels of security.

At the same time, it is important for clinicians and scientists to be able to share their discoveries and insights, so that they can make the best decisions based on all the knowledge available. Sapientia, for example, provides a collaborative software environment, where clinical geneticists can share DNA mutations and literature insights. This allows clinicians, across multiple organizations in different parts of the world to, more quickly, identify disease-causing mutations in patients and administer effective therapies.

Looking to the Future

As knowledge in genomics keeps expanding and healthcare practitioners continue to adopt new technologies, the medical community is working towards a future where diagnosing, managing and treating inherited disorders and complex diseases becomes the norm. To achieve this clinicians, doctors, private businesses and even politicians across all medical sectors from primary care to commercial drug discovery need to keep driving forward to push the boundaries of genomic medicine.

The world that Congenica envisions is one where the sequencing of an individual’s genome is part of routine medical practice and where the highest level of healthcare is available to all. A world where having a genome sequenced is as routine as MRI or CT scans. A world in which we understand diseases which, currently, we can’t even name. Genomics is the key to unlocking a world previously thought impossible and in understanding the very building blocks are lives are built upon. It is the medical revolution of our time.